Not logged in CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025) Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A. Share Save
Quantitative MRI Assessment of Bone Marrow Disease in Myelofibrosis: A Prospective Study Robison, Tanner H.; Levinson, Annabel; Lee, Winston; Pettit, Kristen; Malyarenko, Dariya; Kandarpa, Malathi; Johnson, Timothy D.; Chenevert, Thomas L.; Ross, Brian D.; Talpaz, Moshe; Luker, Gary D. Share Save
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Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study Liu, PK; Lee, W; Su, PY; Kim, AH; Kang, EYC; Levi, SR; Jenny, LA; Lin, PH; Chi, YC; Wu, PL; Wang, EHH; Chang, YC; Liu, L; Chen, KJ; Hwang, YS; Wu, WC; Lai, CC; Tsang, SH; Allikmets, R; Wang, NK Share Save
Case report: Zika surveillance complemented with wastewater and mosquito testing Wong, Judith Chui Ching; Tay, Martin; Hapuarachchi, Hapuarachchige Chanditha; Lee, Benjamin; Yeo, Gladys; Maliki, Dzulkhairul; Lee, Winston; Chio, Kaiyun; Tan, Wilson Cheong Huat; Ng, Lee Ching; Suhairmi, Nur-Afridah Mohamed Share Save
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A. Share Save
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Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites de Prisco, Nicola; Ford, Caitlin; Elrod, Nathan D.; Lee, Winston; Tang, Lauren C.; Huang, Kai-Lieh; Lin, Ai; Ji, Ping; Jonnakuti, Venkata S.; Boyle, Lia; Cabaj, Maximilian; Botta, Salvatore; ounap, Katrin; Reinson, Karit; Wojcik, Monica H.; Rosenfeld, Jill A.; Bi, Weimin; Tveten, Kristian; Prescott, Trine; Gerstner, Thorsten; Schroeder, Audrey; Fong, Chin-To; George-Abraham, Jaya K.; Buchanan, Catherine A.; Hanson-Khan, Andrea; Bernstein, Jonathan A.; Nella, Aikaterini A.; Chung, Wendy K.; Brandt, Vicky; Jovanovic, Marko; Targoff, Kimara L.; Yalamanchili, Hari Krishna; Wagner, Eric J.; Gennarino, Vincenzo A. Share Save
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease Kolesnikova, Masha; Oh, Jin Kyun; Wang, Jiali; Lee, Winston; Zernant, Jana; Su, Pei-Yin; Kim, Angela H.; Jenny, Laura A.; Yang, Tingting; Allikmets, Rando; Tsang, Stephen H. Share Save
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center Ganapathi, Mythily; Thomas-Wilson, Amanda; Buchovecky, Christie; Dharmadhikari, Avinash; Barua, Subit; Lee, Winston; Ruan, Merry Z. C.; Soucy, Megan; Ragi, Sara; Tanaka, Joy; Clark, Lorraine N.; Naini, Ali B.; Liao, Jun; Mansukhani, Mahesh; Tsang, Stephen; Jobanputra, Vaidehi Share Save
Targeted long-read sequencing identifies missing disease-causing variation Miller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E. Share Save
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Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy Oh, Jin Kyun; Ryu, Joseph; Lima de Carvalho Jr, Jose Ronaldo; Levi, Sarah R.; Lee, Winston; Tsamis, Emmanouil; Greenstein, Vivienne C.; Mahajan, Vinit B.; Allikmets, Rando; Tsang, Stephen H. Share Save
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IER5, a DNA damage response gene, is required for Notch-mediated induction of squamous cell differentiation Pan, Li; Lemieux, Madeleine E.; Thomas, Tom; Rogers, Julia M.; Lipper, Colin H.; Leen, Winston; Johnson, Carl; Sholl, Lynette M.; South, Andrew P.; Marto, Jarrod A.; Adelmant, Guillaume O.; Blacklow, Stephen C.; Aster, Jon C. Share Save
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